Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences

Riggan, Kirsten A.; Gross, Brianna; Close, Sharron; Weinberg, Abigail; Allyse, Megan

doi:10.1002/jgc4.1407

Cited by 21 publications

(36 citation statements)

References 52 publications

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“…Whether identified prenatally or postnatally, a diagnosis of XYY can be difficult for families to process. For many families, the diagnosis comes as a surprise, as most parents report not having prior knowledge of SCA at the time of diagnosis (Riggan et al 2020(Riggan et al , 2021. Thus, receiving a diagnosis of XYY can present as a traumatic event and often lead to feelings of grief, distress, and guilt (Lalatta et al 2012;Riggan et al 2021).…”

Section: Individual and Family Experiences Of The Diagnostic Journeymentioning

confidence: 99%

“…While it is common for families to experience feelings of worry and uncertainty, some families, especially those with children diagnosed postnatally, may feel relieved after receiving a diagnosis (Riggan et al 2020(Riggan et al , 2022. Conversely, parents who receive a prenatal diagnosis are at an increased risk of feeling depressed, anxious, and less optimistic (Jaramillo et al 2019;Riggan et al 2020Riggan et al , 2021.…”

Section: Individual and Family Experiences Of The Diagnostic Journeymentioning

confidence: 99%

“…Despite advances in our understanding of SCA, parents are reporting that they are not presented with materials that are up-to-date and easy to understand at the time of diagnosis (Jaramillo et al 2019;Riggan et al 2020Riggan et al , 2021. Another concern is the imbalance of information, as many parents feel that the negative aspects of the condition are emphasized over positive aspects and that the language used was negative or apologetic (Jaramillo et al 2019;Riggan et al 2020Riggan et al , 2021. Poor and imbalanced communication at the time of diagnosis may lead families to feel like they do not have the necessary emotional support or information to make informed decisions.…”

Section: Individual and Family Experiences Of The Diagnostic Journeymentioning

confidence: 99%

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Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

et al. 2023

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XYY syndrome is characterized by a variable neurodevelopmental phenotype, with features including developmental delays, cognitive impairments, and an increased risk for mental health conditions. There are two recent developments that have primarily motivated this review. The first is the increased use of non-invasive prenatal screening (NIPS), which will likely result in more individuals being diagnosed with XYY prenatally. As such, health care providers (HCPs) both within genetics and outside of the specialty are more likely to encounter this diagnosis in the future. The second is advances in the understanding of the phenotypic variability of XYY through biobank and deep phenotyping efforts. As the phenotypic spectrum of XYY syndrome continues to expand, families will face greater uncertainty when receiving this diagnosis. Given both of these developments, HCPs will need to have up-to-date and accurate information about XYY to better counsel families. Furthermore, the ability to employ effective counseling techniques, such as anticipatory guidance, will aid in supporting and guiding families through the diagnostic journey. This review aims to provide insight on the neurodevelopmental and psychosocial aspects of XYY syndrome by discussing current research and borrowing from the relevant psychosocial literature of other genetic conditions. In this way, we hope to equip HCPs with the ultimate goal of improving the care and support provided to individuals with XYY and their families.

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Section: Individual and Family Experiences Of The Diagnostic Journeymentioning

confidence: 99%

Section: Individual and Family Experiences Of The Diagnostic Journeymentioning

confidence: 99%

Section: Individual and Family Experiences Of The Diagnostic Journeymentioning

confidence: 99%

See 1 more Smart Citation

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

et al. 2023

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“…Prior qualitative research with parents of children with SCAs has mostly focused on the diagnostic experience and medical care, where parents have reported a desire for more supportive delivery of the diagnosis as well as more holistic and optimistic presentation of SCAs from medical professionals (Jaramillo et al, 2019;Riggan et al, 2021). Richardson et al (2021) found parents of children with SCAs are often forced to assume the roles of 'expert' and 'advocate' as they navigate the multiple systems in which their children interact, including the educational, medical and social support systems.…”

Section: Parent Perspectivesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with sex chromosome aneuploidies

Thompson

Stinnett

Tartaglia

et al. 2022

Research in Spec Educ Needs

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Students with sex chromosome aneuploidies (SCAs) are at increased risk for learning disabilities and often require individualized supports in the school setting. Parents of students with rare disorders such as SCAs possess a unique understanding of their child's educational experiences and play a crucial role in the development of successful school support plans. This international survey study aimed to inductively capture parent perspectives on educational needs and supports for students with SCAs. Parents of youth with SCAs ages 5-21 years (n = 305) provided free-text responses to open-ended questions about their child's education. Qualitative content analysis using a bioecological systems framework resulted in three overarching themes. Overall, parents identified multiple factors related to the SCA diagnosis that act as barriers to learning, a strong need for school-based social and emotional supports, and elusive or incomplete educational support plans. Based on these findings, we recommend developing robust family-school partnerships, increased collaboration between the school and the child's medical team, and acknowledgement of the significant role the genetic condition plays in the educational experiences of students with SCAs. Specific suggestions for school support plans for students with SCAs are explored, such as providing schoolbased behavioral health supports and explicit teaching of executive function strategies.

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Experiences of receiving an increased chance of sex chromosome aneuploidy result from non‐invasive prenatal testing in Australia: “A more complicated scenario than what I had ever realized”

Lewit-Mendes

Robson

Kelley

et al. 2022

Journal of Genetic Counseling

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Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences

Cited by 21 publications

References 52 publications

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with sex chromosome aneuploidies

Experiences of receiving an increased chance of sex chromosome aneuploidy result from non‐invasive prenatal testing in Australia: “A more complicated scenario than what I had ever realized”

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